Detección de mutaciones no-sinónimas (missense, nonsense e indels) en 409 genes:
ABL1, ABL2, ACVR2A, ADAMTS20, AFF1, AFF3, AKAP9, AKT1, AKT2, AKT3, ALK, APC, ARID1, ARID2, ARNT, ASXL1, ATF1, ATM, ATR, ATRX, AURKA, AURKB, AURKC, AXL, BAI3, BAP1, BCL10, BCL11A, BCL11B, BCL2, BCL2L1, BCL2L2, BCL3, BCL6, BCL9, BCR, BIRC2, BIRC3, BIRC5, BLM, BLNK, BMPR1A, BRAF, BRD3, BTK, BUB1B, CARD11, CASC5, CBL, CCND1, CCND2, CCNE1, CD79A, CD79B, CDC73, CDH1, CDH11, CDH2, CDH20, CDH5, CDK4, CDK6, CDK8, CDK12, CDKN2A, CDKN2B, CDKN2C, CEBPA, CHEK1, CHEK2, CIC, CKS1B, CMPK1, COL1A1, CRBN, CREB1, CREBBP, CRKL, CRTC1, CSF1R, CSMD3, CTNNA1, CTNNB1, CYLD, CYP2C19, CYP2D6, DAXX, DCC, DDB2, DDIT3, DDR2, DEK, DICER1, DNMT3A, DPYD, DST, EGFR, EML4, EP300, EP400, EPHA3, EPHA7, EPHB1, EPHB4, EPHB6, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERG, ESR1, ETS1, ETV1,ETV4, EXT1, EXT2, EZH2, FAM123B, FANCA, FANCC, FANCD2, FANCF, FANCG, FANCJ, FAS, FBWX7, FGFR1, FGFR2, FGFR3, FGFR4, FH, FLCN, FL1, FLT1, FLT3, FLT4, FN1, FOXL2, FOXO1, FOXO3, FOXP1, FOXP4, FZR1, G6PD, GATA1, GATA2, GATA3, GDNF, GNA11, GNAQ, GNAS, GPR124, GRM8, GUCY1A2, HCAR1, HIF1A, HLF, HNF1A, HOOK3, HRAS, HSP90AA1, HSP90AB1, ICK, IDH1, IDH2, IGF1R, IGF2, IGF2R, IKBKB, IKBKE, IKZF1, IL2, IL21R, IL6ST, IL7R, ING4, IRF4, IRS2, ITGA10, ITGA9, ITGB2, ITGB3, JAK1, JAK2, JAK3, JUN, KAT6A, KAT6B, KDM5C, KDM6A, KDR, KEAP1, KIT, KLF6, KRAS, LAMP1, LCK, LIFR, LPHN3, LPP, LRP1B, LTF, LTK, MAF, MAFB, MAGEA1, MAGI1, MALT1, MAML2, MAP2K1, MAP2K2, MAP2K4, , MAP3K7, MAPK1, MAPK8, MARK1, MARK4, MBD1, MCL1, MDM2, MDM4, MEN1, MET, MITF, MLH1, MLL, MLL2, MLL3, MLLT10, MMP2, MN1, MPL, MRE11A, MSH2, MSH6, MTOR, MTR, MTRR, MUC1, MUTYH, MYB, MYC, MYCL1, MYCN, MYD88, MYH11, MYH9, NBN, NCOA1, NCOA2, NCOA4, NF1, NF2, NFE2L2, NFKB1, NFKB2, NIN, NKX2-1, NLRP1, NOTCH1, NOTCH2, NOTCH4, NPM1, NRAS, NSD1, NTRK1, NTRK3, NUMA1, NUP214, NUP98, PALB2, PAK3, PARP1, PAX3, PAX5, PAX7, PAX8, PBRM1, PBX1, PDE4DIP, PDGFB, PDGFRA, PDGFRB, PER1, PGAP3, PHOX2B, PIK3C2B, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIM1, PKHD1, PLAG1, PLCG1, PLEKHG5, PML, PMS1, PMS2, POT1, POU5F1, PPARG, PP2R1A, PRDM1, PRKAR1A, PRKDC, PSIP1, PTCH1, PTEN, PTGS2, PTPN11, PTPRD, PTPRT, RAD50, RAF1, RALGDS, RARA, RB1, RECQL4, REL, RET, RHOH, RNASEL, RNF2, RNF213, ROS1, RPS6K42, RRM1, RUNX1, RUNX1T1, SAMD9, SBDS, SDHA, SDHB, SDHC, SDHD, SEPT9, SETD2, SF3B1, SGK1, SH2D1A, SMAD2, SMAD4, SMARCA4, SMARCB1, SMO, SMUG1, SOCS1, SOX11, SOX2, SRC, SSX1, STK1, STK36, SUFU, SYK, SYNE1, TAF1, TAF1L, TAL1, TBX22, TCF12, TCF3, TCF7L1, TCF7L2, TCL1A, TET, TET1, TFE3, TGFBR2, TGM7, THBS1, TIMP3, TLR4, TLX1, TNFAIP3, TNFRSF14, TNK2, TOP1, TP53, TPR, TRIM24, TRIM33, TRIP11, TRRAP, TSC1, TSC2, TSHR, UBR5, UGT1A, USP9X, VHL, WAS, WHSC1, WRN, WT1, XPA, XPC, XPO1, XRCC2, ZNF384 y ZNF521
y análisis y cuantificación simultanea del Tumor Mutational Burden (TMB). Cobertura de 1,7 Mb de DNA genómico (1,2Mb de secuencias exónicas)
Este panel permite un análisis exhaustivo de alteraciones a nivel de DNA de 409 genes ofreciendo información crucial a nivel diagnóstico, pronóstico y terapéutica. En este sentido la inclusión del TMB en el análisis permite identificar pacientes con neoplasias sólidas candidatos a tratamiento con inmunoterapia.